"Invitae"[submitter] AND "DUS4L-BCAP29"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1947462	NM_181581.3(DUS4L):c.-348C>T	DUS4L-BCAP29, COG5 +1 more	Single nucleotide variant (synonymous variant +2 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 1983438	NM_181581.3(DUS4L):c.-347C>T	COG5, DUS4L +1 more (G6E)	Single nucleotide variant (missense variant +2 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 1619364	NM_181581.3(DUS4L):c.-342C>T	DUS4L-BCAP29, COG5 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 817906	NM_181581.3(DUS4L):c.-339_-338del	COG5, DUS4L +1 more	Deletion (frameshift variant +2 more)	COG5-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 1417312	NM_181581.3(DUS4L):c.-334C>T	DUS4L-BCAP29, COG5 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2153933	NM_181581.3(DUS4L):c.-332A>C	COG5, DUS4L +1 more (M1R)	Single nucleotide variant (missense variant +2 more)	COG5-congenital disorder of glycosylation	GUncertain significance

ClinVar